[Proximal monosomy 13].
A 45,XX,-13, der(22), rcp(13;22)(q12;q13)mat karyotype was observed in a 7-month-old female with multiple congenital anomalies. Her mother is a balanced t(13;22)(q12;q13) carrier.
Geormăneanu
M
M
Spitalul Emilia Irza Departamentul de Genetică pediatrică, Bucarest, Roumanie.
Geormăneanu
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009006:Monosomy; D014178:Translocation, Genetic
Monosomie 13 proximale.